Prevalence and incidence of rare diseases: Bibilographic data Diseases listed by decreasing prevalence, incidence or number of published cases
|
|
- Donald Goodwin
- 6 years ago
- Views:
Transcription
1 2 January 2018 Prevalence and incidence of rare diseases: Bibilographic data s listed by decreasing prevalence, incidence or number of published
2 Methodology Orphanet carries out a systematic survey of literature in order to estimate the prevalence and incidence of rare diseases. This study aims to collect new data regarding point prevalence, birth prevalence and incidence, and to update already published data according to new scientific studies or other available data. This data is presented in the following reports published biannually: Prevalence, incidence or number of published listed by diseases (in alphabetical order) ; s listed by decreasing prevalence, incidence or number of published ; Data collection A number of different sources are used : Registries (RARECARE, EUROCAT, etc) ; National/international health institutes and agencies (Institut National de Veille Sanitaire (French Institute of Health Surveillance); American Center of Control and Prevention, American National Cancer Institute, European Medicines Agency, World Health Organization etc) ; Medline is consulted using the following search algorithm : «names» AND Epidemiology[MeSH:NoExp] OR Incidence[Title/abstract] OR Prevalence[Title/ abstract] OR Epidemiology[Title/abstract]; Medical texts, grey literature and reports from experts ; Orphanet collaborating experts Data characteristics The data published in this document are worldwide estimations, or European estimations if a worldwide estimation is not available. The published data is raw collected data or extrapolations of raw data at worldwide or European level when no genetic founder effect is suspected as a cause of a disease. If a range of national data is available, the average is calculated to estimate the worldwide or European prevalence or incidence. When a range of data sources is available, the most recent data source that meets a certain number of quality criteria is favoured (registries, meta-analyses, population-based studies, large cohorts studies). For congenital diseases, the prevalence is estimated, so that: Prevalence = birth prevalence x (patient life expectancy/general population life expectancy). When only incidence data is documented, the prevalence is estimated when possible, so that : Prevalence = incidence x disease mean duration. When neither prevalence nor incidence data is available, which is the case for very rare diseases, the number of or families documented in the medical literature is provided. Limitations of the study The prevalence and incidence data presented in this report are only estimations and cannot be considered to be absolutely correct. The average values presented in this report do not take into account the heterogeneous nature of the methodologies employed by the studies considered in the literature survey. The validity and exactitude of raw data sources is taken for granted and have not been verified. Thus, confusion between terms such as incidence and prevalence and/or birth prevalence is possible due to the interchangeable use of these terms in certain sources. It is possible that prevalence is overestimated in some as epidemiological studies are generally based on hospital data in regions with higher prevalence. Data presentation Without specification, published figures are worldwide. An asterisk * indicates European data. Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - January
3 Please note that this is just a selection of Orphanet's rare disease epidemiological data. Currently 5835 rare diseases are annotated with prevalence or incidence information in the Orphanet database. To access the complete data sets visit Orphadata ( List of diseases or groups of diseases by decreasing prevalence Estimated prevalence (/100,000) 870 Down 95.0 BP 3388 Neural tube defect BP* Cleft lip/palate 80.0 BP Tumor of endocrine glands 64.0 * 2014 Cleft palate 53.6 BP* 535 Rare cutaneous lupus erythematosus 50.0 * 8 47,XYY 50.0 BP* 48 Congenital bilateral absence of vas deferens 50.0 * Iniencephaly 50.0 * Pneumonia caused by Pseudomonas aeruginosa infection 50.0 * Renal agenesis, unilateral 50.0 BP Squamous cell carcinoma of head and neck 49.0 * B-cell chronic lymphocytic leukemia 48.0 * 2185 Congenital hydrocephalus 46.5 BP* Necrotizing enterocolitis Preeclampsia 45.0 * Asherman 44.0 * Renal dysplasia 43.5 BP* 3375 Trisomy X 42.5 * 801 Scleroderma Renal cell carcinoma 42.0 * Non-immune hydrops fetalis 42.0 BP Eosinophilic esophagitis Familial long QT 40.0 BP* 294 Fetal cytomegalovirus 40.0 * Genetic peripheral neuropathy Cardiogenic shock 40.0 * Romano-Ward 40.0 * Hepatitis delta 40.0 * 3189 Congenital pulmonary valve stenosis 39.3 BP* 442 Congenital hypothyroidism 38.0 BP* Uveitis 38.0 * Estimated prevalence (/100,000) Moderate and severe traumatic brain injury 37.8 * q11.2 deletion 37.5 BP Primary congenital hypothyroidism 37.5 * Acute sensorineural hearing loss by acute acoustic trauma or sudden * deafness or surgery induced acoustic trauma Non-papillary transitional cell carcinoma 37.0 * of the bladder 340 Hemorrhagic fever-renal 37.0 * Solar urticaria 36.0 * 1457 Aorta coarctation 35.6 BP* 2764 Osteochondritis dissecans 35.0 * 1048 Isolated anencephaly/exencephaly 35.0 BP* Radiation proctitis 35.0 * Uremic pruritus 35.0 * 3303 Tetralogy of Fallot 34.0 BP 636 Neurofibromatosis BP Permanent congenital hypothyroidism 33.3 BP* 858 Congenital toxoplasmosis 33.0 BP* Placental insufficiency Fragile X Vernal keratoconjunctivitis 32.0 * Sepsis in premature infants 32.0 * Spinal cord injury 32.0 * Transposition of the great arteries 31.7 BP* 2140 Congenital diaphragmatic hernia 30.0 BP 3394 Soft tissue sarcoma 30.0 * 563 Peripartum cardiomyopathy 30.0 BP 1330 Partial atrioventricular canal 30.0 * 729 Polycythemia vera 30.0 * Ovarian cancer 30.0 * Wild ATTR amyloidosis 30.0 * Idiopathic hypersomnia 30.0 * Primary systemic amyloidosis 30.0 * 467 Non-acquired combined pituitary hormone 29.0 BP* 545 Follicular lymphoma 28.0 * Central retinal vein occlusion 28.0 * 1656 Dermatitis herpetiformis 27.0 * 791 Retinitis pigmentosa Post-transplant lymphoproliferative disease 26.2 * 703 Bullous pemphigoid 26.0 * Thrombotic thrombocytopenic purpura 25.5 * Cytomegalovirus disease in patients with impaired cell mediated immunity 25.5 * deemed at risk 166 Charcot-Marie-Tooth disease 25.0 * Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - January
4 Estimated prevalence (/100,000) 3002 Immune thrombocytopenic purpura 25.0 * 701 Alopecia universalis 25.0 * 145 Hereditary breast and ovarian cancer 25.0 * 2073 Narcolepsy-cataplexy 25.0 * Thyroid hemiagenesis Syndactyly BP* Neovascular glaucoma 24.4 * 1199 Esophageal atresia 24.3 BP* 1531 Craniosynostosis 24.3 BP* 860 Congenitally uncorrected transposition of the great arteries BP* 2248 Hypoplastic left heart 24.0 BP Primary cutaneous T-cell lymphoma 24.0 * 2368 Gastroschisis 23.7 BP* 2137 Autoimmune hepatitis Multicystic dysplastic kidney BP Unilateral multicystic dysplastic kidney 23.2 BP Anal fistula 23.0 * 232 Sickle cell anemia 22.0 * Scarring in glaucoma filtration surgical procedures 22.0 * Pouchitis 22.0 * Pulmonary fungal infections in patients deemed at risk 22.0 * 636 Neurofibromatosis * Congenital hypothyroidism due to developmental anomaly 21.3 * 186 Primary biliary cholangitis Partial chromosome Y deletion Oligoarticular juvenile idiopathic arthritis 20.5 * 60 Alpha-1-antitrypsin 20.0 * 70 Proximal spinal muscular atrophy 20.0 BP* 1329 Complete atrioventricular canal 20.0 BP* 557 Isolated anorectal malformation 20.0 BP 130 Brugada 20.0 * Congenital sucrase-isomaltase 20.0 * 1330 Partial atrioventricular canal 20.0 BP* 247 Arrhythmogenic right ventricular cardiomyopathy Infant acute respiratory distress 20.0 * Acute liver failure 20.0 * AIDS wasting 20.0 * Proximal 16p11.2 microdeletion 20.0 * Vulvar intraepithelial neoplasia 20.0 * Pigmented villonodular synovitis 20.0 * 3389 Tuberculosis 20.0 * 823 Isolated spina bifida 18.6 BP* Estimated prevalence (/100,000) Isolated Biliary atresia 18.5 BP 704 Pemphigus vulgaris 18.0 * Non-infectious posterior uveitis 18.0 * Adenovirus infection in immunocompromised patients 18.0 * 154 Familial isolated dilated cardiomyopathy 17.5 * Charcot-Marie-Tooth disease Trisomy BP Primary lymphedema 16.7 * 461 Recessive X-linked ichthyosis 16.6 * 1201 Atresia of small intestine 16.0 BP* Buerger disease Diffuse large B-cell lymphoma 16.0 * Primary membranoproliferative glomerulonephritis 16.0 * Acute peripheral arterial occlusion 16.0 * Stromal keratitis 16.0 * Microtia 15.5 BP Systemic sclerosis 15.4 * Duchenne muscular dystrophy 15.1 BP* 558 Marfan Lennox-Gastaut 15.0 * 2828 Young-onset Parkinson disease 15.0 * Familial cerebral cavernous malformation Atopic keratoconjunctivitis 15.0 * Mucopolysaccharidosis 4A 15.0 * Dentinogenesis imperfecta * Dentinogenesis imperfecta 14.5 * Thyroid ectopia 14.3 * 214 Cystinuria Chronic primary adrenal insufficiency 14.0 * Idiopathic intracranial hypertension 14.0 * Non-immunoglobulin-mediated membranoproliferative glomerulonephritis 14.0 * 2162 Holoprosencephaly 13.4 BP* 3193 Supravalvular aortic stenosis 13.3 * Gastrointestinal stromal tumor 13.0 * Bronchopulmonary dysplasia 13.0 * Pleural empyema 13.0 * Mucolipidosis III alpha/beta Thyroid carcinoma Triploidy 12.6 BP* 273 Steinert myotonic dystrophy Sarcoidosis Ehlers-Danlos, hypermobility 12.5 * 903 Von Willebrand disease 12.5 Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - January
5 Estimated prevalence (/100,000) 2415 Rare lymphatic malformation 12.5 * Addison disease 12.5 * 828 Stickler 12.2 BP 42 Medium chain acyl-coa dehydrogenase 12.0 BP* Chronic pain requiring intraspinal analgesia 12.0 * 415 Hyperornithinemia-hyperammonemiahomocitrullinuria 12.0 * 805 Tuberous sclerosis complex 12.0 * CD4+/CD56+ hematodermic neoplasm 12.0 * Multiple myeloma 11.9 * 660 Omphalocele 11.7 BP* 1866 Focal, segmental or multifocal dystonia 11.7 * 2032 Idiopathic pulmonary fibrosis 11.5 * Hemophilia A BP Small cell lung cancer 11.2 * 635 Neuroblastoma 11.0 * 3109 Mayer-Rokitansky-Küster-Hauser 11.0 BP 513 Acute lymphoblastic leukemia 11.0 * 890 Hepatic veno-occlusive disease 11.0 * AL amyloidosis 11.0 * 388 Hirschsprung disease 10.9 BP* 904 Williams 10.8 BP 700 Alopecia totalis 10.5 * 778 Rett 10.0 * 580 Mucopolysaccharidosis * 827 Stargardt disease 10.0 * 1146 Digitotalar dysmorphism Linear nevus sebaceus 10.0 BP* 716 Phenylketonuria 10.0 BP* 805 Tuberous sclerosis complex 10.0 BP* 666 Osteogenesis imperfecta 10.0 * 654 Nephroblastoma 10.0 BP* 569 Familial or sporadic hemiplegic migraine 10.0 * 233 Duane retraction 10.0 * 3157 Septo-optic dysplasia spectrum 10.0 BP* 412 Hyperlipoproteinemia Catecholaminergic polymorphic ventricular tachycardia 10.0 * Dermatofibrosarcoma protuberans 10.0 * Recurrent acute pancreatitis 10.0 * Hepatocellular carcinoma 10.0 * Acquired aneurysmal subarachnoid hemorrhage 10.0 * Partial deep dermal and full thickness burns 10.0 * Polymalformative genetic with increased risk of developing cancer 10.0 * Estimated prevalence (/100,000) Glial tumor 10.0 * 1114 Aplasia cutis congenita 10.0 BP 2177 Hydranencephaly 10.0 BP Carcinoma of esophagus Bone sarcoma 9.29 * Gardner 9.1 BP 2443 Mitochondrial oxidative phosphorylation 9.0 * disorder due to nuclear DNA anomalies 900 Granulomatosis with polyangiitis 9.0 * 1203 Duodenal atresia 9.0 * 1203 Duodenal atresia 9.0 BP* Mastocytosis 9.0 * Congenital total pulmonary venous return anomaly 9.0 BP Complication after organ transplantation 9.0 * Choanal atresia 8.6 BP* Apnea of prematurity 8.5 * 3280 Syringomyelia 8.4 * Anophthalmia-microphthalmia 8.3 BP* 2444 Congenital pulmonary airway malformation 8.2 BP* 171 Primary sclerosing cholangitis Idiopathic achalasia West 8.0 * 194 Ocular coloboma 8.0 BP* CREST 8.0 * Rheumatoid factor-negative juvenile idiopathic arthritis 8.0 * 5 Long chain 3-hydroxyacyl-CoA dehydrogenase 8.0 * Cytomegalic congenital adrenal hypoplasia 8.0 BP Congenital non-syndromic heart malformation 7.8 BP* 589 Myasthenia gravis Hemophilia 7.7 * Sporadic adult-onset ataxia of unknown 7.6 * etiology 72 Angelman Laryngotracheoesophageal cleft 7.5 BP* 1464 Univentricular heart 7.5 BP Classic congenital adrenal hyperplasia due to 21-hydroxylase, salt wasting form 7.5 * Classic congenital adrenal hyperplasia due to 21-hydroxylase, salt wasting form 7.5 BP* 586 Cystic fibrosis 7.4 * 821 Sotos 7.1 BP 732 Polymyositis 7.1 * Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - January
6 Estimated prevalence (/100,000) 705 Pendred 7.0 * 1332 Medullary thyroid carcinoma 7.0 * Classic congenital adrenal hyperplasia due to 21-hydroxylase 7.0 BP Classic congenital adrenal hyperplasia due to 21-hydroxylase 7.0 * Recurrent hepatitis C virus induced liver disease in liver transplant recipients 7.0 * Primary progressive aphasia p13.11 microdeletion 7.0 BP 2059 Fryns 7.0 BP* Marginal zone lymphoma 7.0 * 42 Medium chain acyl-coa dehydrogenase Congenital adrenal hyperplasia 6.7 BP* 3366 Isolated trigonocephaly 6.7 BP* SUNCT 6.7 * Hypohidrotic ectodermal dysplasia 6.7 * Myotonic dystrophy Iminoglycinuria 6.68 * Iminoglycinuria 6.67 BP* Cat-scratch disease 6.6 * 138 CHARGE 6.5 BP Vasculitis 6.3 * 887 VACTERL/VATER association 6.25 BP* q21.31 microdeletion 6.25 * 733 Familial adenomatous polyposis 6.0 * 790 Retinoblastoma 6.0 BP 418 Congenital adrenal hyperplasia 6.0 * 221 Dermatomyositis 6.0 * 683 Progressive supranuclear palsy Chronic myeloid leukemia 6.0 * 609 Tibial muscular dystrophy 6.0 * Cerebral arteriovenous malformation 6.0 * Benign schwannoma 6.0 * 524 Li-Fraumeni Pulmonary non-tuberculous mycobacterial infection 6.0 * 55 Oculocutaneous albinism Cushing Neuroblastoma 5.8 BP* 1037 Arthrogryposis multiplex congenita 5.7 BP* Enthesitis-related juvenile idiopathic arthritis 5.7 * 881 Turner 5.5 BP* 963 Acromegaly Familial hypocalciuric hypercalcemia Split hand-split foot malformation 5.4 BP* Estimated prevalence (/100,000) 2542 Isolated anophthalmia-microphthalmia 5.3 BP* 738 Porphyria Hereditary spastic paraplegia Rett 5.0 BP* 792 X-linked retinoschisis Hereditary fructose intolerance 5.0 * 718 Isolated Pierre Robin 5.0 BP* 287 Ehlers-Danlos, classic Primary ciliary dyskinesia 5.0 BP* 43 X-linked adrenoleukodystrophy 5.0 BP 251 Multiple epiphyseal dysplasia 5.0 * 766 Hemolytic anemia due to red cell pyruvate kinase 5.0 * Ehlers-Danlos * Systemic-onset juvenile idiopathic arthritis 5.0 * Calciphylaxis 5.0 * Sanfilippo C 5.0 * Hemophilia A Tritanopia 4.8 * Duchenne muscular dystrophy Congenital heart block 4.54 BP 269 Facioscapulohumeral dystrophy 4.5 * Wild ABeta2M amyloidosis 4.5 * X-linked hypophosphatemia 4.45 BP 104 Leber hereditary optic neuropathy Neurogenic arthrogryposis multiplex congenita 4.3 BP* 3384 Truncus arteriosus 4.3 BP 2116 Hartnup disease Tricuspid atresia 4.2 BP* Rheumatoid factor-positive polyarticular 4.2 * juvenile idiopathic arthritis Psoriasis-related juvenile idiopathic arthritis 4.2 * Neurotrophic keratopathy 4.2 * 2130 Hemimelia 4.15 * Off-periods in Parkinson disease not responding to oral treatment 4.15 * Posterior urethral valve BP* 15 Achondroplasia 4.0 BP 564 Meckel 4.0 BP 819 Smith-Magenis Tetrasomy 12p 4.0 BP* 1928 Congenital lobar emphysema 4.0 BP 3193 Supravalvular aortic stenosis 4.0 BP* MALT lymphoma 4.0 * Cutaneous neuroendocrine carcinoma 4.0 * Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - January
7 Estimated prevalence (/100,000) Koolen-De Vries 4.0 * Cushing disease 4.0 * Familial thyroid dyshormonogenesis 4.0 * Porphyria cutanea tarda 4.0 * Spastic paraplegia * Central diabetes insipidus 4.0 * 730 Autosomal dominant polycystic kidney disease 3.96 * p inverted duplication/deletion 3.9 BP* 803 Amyotrophic lateral sclerosis Acute interstitial pneumonia 3.8 * Indolent systemic mastocytosis 3.8 * 2467 Systemic mastocytosis Kallmann 3.75 * 3378 Trisomy BP* 3451 West 3.7 BP 2932 Chronic inflammatory demyelinating polyneuropathy 3.7 * 3465 Worster-Drought 3.7 * 818 Smith-Lemli-Opitz 3.7 BP* Enlarged parietal foramina Congenital glaucoma 3.6 BP* 640 Hereditary neuropathy with liability to pressure palsies 3.5 * 116 Beckwith-Wiedemann 3.5 BP* 1880 Ebstein malformation 3.5 BP* 2655 Thanatophoric dysplasia 3.5 BP* 3205 Sturge-Weber 3.5 BP* 2103 Guillain-Barré 3.5 * 81 Antisynthetase Multiple system atrophy Mantle cell lymphoma 3.5 * Athyreosis 3.5 * Thyroid hypoplasia Rare carcinoma of pancreas Short bowel 3.4 * 218 Darier disease 3.4 * Muenke 3.33 BP 652 Multiple endocrine neoplasia * 905 Wilson disease Hypochondroplasia 3.3 * 1172 Autosomal recessive cerebellar ataxia Autosomal dominant optic atrophy Hypoplastic right heart 3.3 BP* Pulmonary arterial hypertension 3.3 * 750 Pseudoachondroplasia Acatalasemia 3.2 * 158 Systemic primary carnitine 3.2 BP* Estimated prevalence (/100,000) Gastric neuroendocrine tumor 3.2 * 739 Prader-Willi 3.1 BP* 2322 Kabuki 3.1 * Pleural mesothelioma 3.1 * Acute inflammatory demyelinating polyradiculoneuropathy 3.1 * Bladder exstrophy 3.05 BP 673 Malaria 3.0 * 794 Saethre-Chotzen 3.0 BP* 136 CADASIL 3.0 * 282 Frontotemporal dementia 3.0 * 767 Polyarteritis nodosa 3.0 * 2745 Opitz G/BBB 3.0 * Graft versus host disease 3.0 * Bacterial toxic-shock Primary myelofibrosis 3.0 * Chronic thromboembolic pulmonary hypertension 3.0 * Congenitally corrected transposition of the great arteries 3.0 BP Ileal pouch anal anastomosis related faecal incontinence 3.0 * Limbal stem cell 3.0 * Primary mediastinal large B-cell lymphoma 3.0 * Isolated plagiocephaly 3.0 BP Methotrexate toxicity or dose selection 3.0 * Adult T-cell leukemia/lymphoma 3.0 * 374 Goldenhar 2.9 BP* 653 Multiple endocrine neoplasia * 506 Leigh 2.8 BP* Severe hemophilia A 2.8 * 626 Large congenital melanocytic nevus 2.75 * 399 Huntington disease Autosomal dominant cerebellar ataxia Achromatopsia methylcrotonyl-CoA carboxylase 2.65 BP* Oculocutaneous albinism Gitelman 2.5 * 1034 Amniotic bands 2.5 BP* 1872 Cone rod dystrophy 2.5 * ,XX ovotesticular disorder of sex development 2.5 BP 2337 Non-epidermolytic palmoplantar keratoderma 2.5 * 65 Leber congenital amaurosis 2.5 BP 758 Pseudoxanthoma elasticum 2.5 * 94 Astrocytoma 2.5 * Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - January
8 Estimated prevalence (/100,000) ,XX testicular disorder of sex development Dravet 2.5 BP Familial isolated restrictive cardiomyopathy 2.5 * Peripheral resistance to thyroid hormones 2.5 * Progressive non-fluent aphasia 2.5 * Classic congenital adrenal hyperplasia due to 21-hydroxylase, simple 2.5 * virilizing form 65 Leber congenital amaurosis Oculocutaneous albinism Monosomy 18q 2.5 BP Meconium aspiration 2.44 * Epispadias 2.4 BP* Multiple system atrophy, parkinsonian 2.4 * Citrullinemia I 2.4 * 908 Fragile X 2.4 BP* 263 Limb-girdle muscular dystrophy Lead poisoning 2.3 * 905 Wilson disease 2.2 BP 2869 Peutz-Jeghers 2.2 BP 304 Epidermolysis bullosa simplex 2.2 BP* Legius 2.2 BP Becker muscular dystrophy 2.2 BP* Isolated tracheo-esophageal fistula 2.2 BP 217 Isolated Dandy-Walker malformation 2.1 * Cholangiocarcinoma Friedreich ataxia 2.0 * 480 Kearns-Sayre 2.0 * 607 Nemaline myopathy 2.0 BP* 280 Wolf-Hirschhorn 2.0 BP* 126 Blepharophimosis-epicanthus inversusptosis Treacher-Collins 2.0 BP* 352 Galactosemia 2.0 BP* 3346 Tracheal agenesis 2.0 BP* 63 Alport 2.0 * 3129 Sarcosinemia 2.0 BP 180 Choroideremia 2.0 * 1699 Trisomy 12p 2.0 BP 2017 Sternal cleft 2.0 BP* 185 Scimitar 2.0 BP* 2345 Isolated Klippel-Feil 2.0 * Craniopharyngioma 2.0 * Fibular hemimelia 2.0 * Anaplastic large cell lymphoma 2.0 * Estimated prevalence (/100,000) fluorouracil poisoning 2.0 * Paroxysmal hemicrania 2.0 * Childhood disintegrative disorder 2.0 * 657 Congenital isolated hyperinsulinism 2.0 BP Posterior urethral valve 2.0 * Lysosomal acid lipase 2.0 * 150 Nasopharyngeal carcinoma 2.0 * 506 Leigh 2.0 * Ring chromosome 2.0 BP Hepatitis B reinfection following liver transplantation 2.0 * 3392 Tularemia 2.0 * 1598 Monosomy 18p 2.0 BP* 447 Paroxysmal nocturnal hemoglobinuria 2.0 * 199 Cornelia de Lange 1.9 * 10 48,XXYY 1.9 BP* Inherited epidermolysis bullosa 1.9 BP* Malignant sex cord stromal tumor of ovary 1.85 * 304 Epidermolysis bullosa simplex Annular pancreas 1.8 BP* 664 Ornithine transcarbamylase 1.77 BP 77 Aniridia Glycogen storage disease due to acid maltase, late-onset 1.75 BP p23.1 duplication Hydrocephalus with stenosis of the aqueduct of Sylvius 1.7 BP 2182 Hydrocephalus with stenosis of the aqueduct of Sylvius Neurofibromatosis * 2152 Mowat-Wilson 1.7 BP* 1848 Renal agenesis, bilateral 1.7 BP* Hemophilia B 1.7 * Epignathus 1.68 BP 394 Classic homocystinuria 1.65 * 899 Walker-Warburg 1.65 BP* Severe combined immuno 1.65 BP* 1915 Fetal alcohol 1.6 BP* X-linked Charcot-Marie-Tooth disease 1.6 * Biotinidase 1.6 * Biotinidase 1.6 BP Becker muscular dystrophy Coffin-Lowry Budd-Chiari 1.5 * 2019 Femur-fibula-ulna complex 1.5 BP* 2911 Poland 1.5 BP* 389 Langerhans cell histiocytosis 1.5 * 137 Congenital disorder of glycosylation 1.5 BP* Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - January
9 Estimated prevalence (/100,000) Primary lateral sclerosis 1.5 * 641 Multifocal motor neuropathy Neuromyelitis optica 1.5 * Incessant infant ventricular tachycardia 1.5 BP* Idiopathic neonatal atrial flutter 1.5 BP* Hereditary angioedema 1.5 * Spinocerebellar ataxia Spinocerebellar ataxia Spinocerebellar ataxia Malignant peritoneal mesothelioma 1.5 * Hypereosinophilic 1.5 * 183 Eosinophilic granulomatosis with polyangiitis Cystinosis 1.5 * 512 Metachromatic leukodystrophy 1.47 BP* 664 Ornithine transcarbamylase 1.4 * 474 Jeune 1.4 BP* Sanfilippo A 1.4 BP 195 Cat-eye 1.35 BP* 3287 Takayasu arteritis 1.34 * 72 Angelman 1.3 BP* 199 Cornelia de Lange 1.3 BP* 355 Gaucher disease 1.3 BP Oculocutaneous albinism 1B Oculocutaneous albinism 1A Syndromic X-linked ichthyosis 1.3 * 1880 Ebstein malformation 1.25 * 2481 Neurocutaneous melanocytosis 1.25 * 628 Diastrophic dwarfism 1.2 * 464 Incontinentia pigmenti 1.2 BP* 2750 Orofaciodigital BP* Superficial pemphigus 1.2 * 731 Autosomal recessive polycystic kidney disease 1.17 * Nevus of Ito 1.17 * 475 Joubert BP 1896 EEC 1.11 BP* 289 Ellis Van Creveld 1.1 BP 224 Neonatal diabetes mellitus 1.1 BP* Joubert and related disorders 1.1 BP Idiopathic pulmonary arterial hypertension 1.1 * 377 Gorlin Krabbe disease 1.0 * 614 Thomsen and Becker disease Blue cone monochromatism Blue cone monochromatism 1.0 BP 681 Hypokalemic periodic paralysis 1.0 * 53 Albers-Schönberg osteopetrosis 1.0 Estimated prevalence (/100,000) 205 Crigler-Najjar 1.0 * 370 Glycogen storage disease due to phosphorylase kinase 1.0 BP* 217 Isolated Dandy-Walker malformation 1.0 BP* 23 Argininosuccinic aciduria 1.0 * 33 Isovaleric acidemia 1.0 * 2308 Jacobsen 1.0 BP* 606 Proximal myotonic myopathy 1.0 * 355 Gaucher disease 1.0 * 364 Glycogen storage disease due to glucose- 1.0 BP 6-phosphatase 646 Niemann-Pick disease C 1.0 * 2134 Atypical hemolytic-uremic 1.0 * 267 Autosomal recessive limb-girdle muscular dystrophy 2A 1.0 * 1552 Currarino triad 1.0 * 189 Hidrotic ectodermal dysplasia 1.0 * 254 Spondylometaphyseal dysplasia 1.0 BP* 2578 Mayer-Rokitansky-Küster-Hauser BP* 296 Enchondromatosis 1.0 * 647 Nijmegen breakage 1.0 BP 2924 Isolated polycystic liver disease 1.0 * 422 Idiopathic and/or familial pulmonary arterial hypertension 1.0 * 3403 Uhl anomaly 1.0 BP 3449 Weill-Marchesani Medulloblastoma 1.0 * 360 Glioblastoma Ehlers-Danlos, kyphoscoliotic 1.0 BP 286 Ehlers-Danlos, vascular 1.0 * 531 Miller-Dieker 1.0 BP* 396 Chronic hiccup 1.0 * 5 Long chain 3-hydroxyacyl-CoA dehydrogenase 1.0 BP* 25 Glutaryl-CoA dehydrogenase 1.0 BP 177 Rhizomelic chondrodysplasia punctata 1.0 * Autosomal recessive limb-girdle muscular dystrophy 2I 1.0 * Acanthamoeba keratitis 1.0 * Cobblestone lissencephaly 1.0 BP* Oculocutaneous albinism Glycogen storage disease due to glucose- 1.0 BP* 6-phosphatase Ia Gaucher disease * Diffuse alveolar hemorrhage 1.0 * X-linked Emery-Dreifuss muscular dystrophy 1.0 Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - January
10 Estimated prevalence (/100,000) X-linked Emery-Dreifuss muscular dystrophy 1.0 BP ,XXXY 1.0 BP* Congenital hypothyroidism due to transplacental passage of maternal TSHbinding inhibitory antibodies 1.0 * Spondyloepiphyseal dysplasia congenita 1.0 BP* Localized Castleman disease Dentin dysplasia I 1.0 * Febrile infection-related epilepsy 1.0 * Malignant tumor of fallopian tubes 1.0 * Glycogen storage disease due to liver phosphorylase kinase 1.0 BP* 141 Canavan disease 1.0 BP 577 Mucolipidosis III 1.0 BP* 157 Carnitine palmitoyltransferase II 1.0 * Partial acquired lipodystrophy 1.0 * 746 Mitochondrial trifunctional protein 1.0 * Familial partial lipodystrophy 1.0 * Acquired generalized lipodystrophy 1.0 * 321 Multiple osteochondromas 1.0 * Familial chylomicronemia 1.0 * Waldenström macroglobulinemia 1.0 * Mal de Meleda Cocaine intoxication 1.0 * Severe combined immuno due 1.0 * to complete RAG1/ Sirenomelia 0.98 BP Autosomal erythropoietic protoporphyria 0.92 * 207 Crouzon disease 0.9 BP* 882 Tyrosinemia BP Lewis-Sumner 0.9 * Ehlers-Danlos 0.9 BP* 581 Mucopolysaccharidosis BP* 576 Mucolipidosis II 0.84 BP* Complete androgen insensitivity Mucopolysaccharidosis BP 365 Glycogen storage disease due to acid maltase 0.8 BP* 52 Alagille 0.8 BP* 2346 Angioosteohypertrophic 0.8 BP* 1461 Criss-cross heart 0.8 BP* Inherited epidermolysis bullosa 0.8 * Severe hemophilia B 0.8 * 3312 Thalidomide embryopathy 0.77 Estimated prevalence (/100,000) 213 Cystinosis 0.75 BP 181 X-linked hypohidrotic ectodermal dysplasia 0.75 BP* 354 GM1 gangliosidosis 0.75 BP* 667 Autosomal recessive malignant osteopetrosis 0.75 BP* 1501 Adrenocortical carcinoma 0.75 * Congenital adrenal hyperplasia due to 11-beta-hydroxylase 0.75 BP* Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase 0.75 BP* 487 Krabbe disease 0.7 BP 783 Rubinstein-Taybi 0.7 BP* 813 Silver-Russell 0.7 BP* 392 Holt-Oram 0.7 BP* 726 Alpers-Huttenlocher 0.7 BP* 110 Bardet-Biedl 0.7 * 303 Dystrophic epidermolysis bullosa Hurler 0.7 BP* 250 Frontonasal dysplasia 0.7 BP* 580 Mucopolysaccharidosis BP 796 Sandhoff disease 0.67 BP* 124 Blackfan-Diamond anemia 0.67 BP* 511 Maple syrup urine disease 0.67 BP 2591 Infantile myofibromatosis 0.67 BP* 3282 Multifocal atrial tachycardia 0.67 BP 1335 Pentalogy of Cantrell 0.67 BP Ectopia cordis 0.67 BP Hematopoietic stem cell transplantation 0.65 * 84 Fanconi anemia 0.62 BP* Congenital absence of upper arm and forearm with hand present 0.62 BP 994 Fetal akinesia deformation sequence 0.6 BP* 2345 Isolated Klippel-Feil 0.6 BP* Disorder of bile acid synthesis 0.6 * Sympathetic ophthalmia 0.6 * Paroxysmal kinesigenic dyskinesia Progressive supranuclear palsycorticobasal 0.6 * Juvenile Huntington disease 0.6 * Moderately severe hemophilia B 0.6 * Mild hemophilia B 0.6 * 550 MELAS 0.6 * 54 X-linked recessive ocular albinism 0.58 BP* Pulmonary arterial hypertension associated with congenital heart disease 0.57 * 562 McCune-Albright 0.55 * 313 Lamellar ichthyosis 0.55 * ,XXXXY 0.55 BP* Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - January
11 Estimated prevalence (/100,000) Acute intermittent porphyria 0.54 * Cloacal exstrophy 0.54 BP 682 Hyperkalemic periodic paralysis 0.5 * 915 Aarskog-Scott 0.5 BP* 255 Dopa-responsive dystonia Thrombocytopenia-absent radius 0.5 BP* 611 Inclusion body myositis 0.5 * 634 Netherton 0.5 BP* 634 Netherton 0.5 * 902 Werner 0.5 * 528 Berardinelli-Seip congenital lipodystrophy 0.5 * 110 Bardet-Biedl 0.5 BP* 3427 Double outlet left ventricle 0.5 BP 811 Shwachman-Diamond 0.5 BP 747 Autoimmune pulmonary alveolar proteinosis Axenfeld-Rieger 0.5 * Combined of factor V and factor VIII 0.5 * 122 Birt-Hogg-Dubé 0.5 * Pleuropulmonary blastoma 0.5 BP* Holocarboxylase synthetase 0.5 BP* Congenital tufting enteropathy 0.5 BP* Autosomal recessive congenital ichthyosis 0.5 * Hurler 0.5 * 201 Cowden 0.5 * 100 Ataxia-telangiectasia 0.49 * Congenital adrenal hyperplasia due to 11-beta-hydroxylase 0.47 * 379 Chronic granulomatous disease 0.46 BP 23 Argininosuccinic aciduria 0.46 BP 676 Hereditary chronic pancreatitis 0.43 * 2869 Peutz-Jeghers 0.4 * 1452 Cleidocranial dysplasia 0.4 BP* 1215 Autosomal dominant optic atrophy plus 0.4 * 2315 Johanson-Blizzard 0.4 BP* 3008 Pyruvate carboxylase 0.4 BP* 256 Early-onset generalized limb-onset dystonia 0.4 * 503 Autosomal dominant Larsen 0.4 BP* Severe congenital neutropenia 0.4 BP* 88 Idiopathic aplastic anemia 0.4 * Niemann-Pick disease B 0.4 * Mucopolysaccharidosis 2, severe form 0.4 BP* Osteogenesis imperfecta BP* Estimated prevalence (/100,000) 631 Non-acquired isolated growth hormone Permanent neonatal diabetes mellitus 0.38 BP* 3440 Waardenburg 0.37 BP* 290 Congenital rubella 0.35 BP* 179 Birdshot chorioretinopathy Lambert-Eaton myasthenic Lesch-Nyhan 0.34 BP* 96 Ataxia with vitamin E 0.33 * 565 Menkes disease 0.33 BP* 327 Congenital factor VII 0.33 * 140 Campomelic dysplasia 0.33 BP* Aggressive systemic mastocytosis 0.33 * Porphyria variegata 0.32 * Sanfilippo A 0.32 * 147 Carbamoyl-phosphate synthetase Emery-Dreifuss muscular dystrophy 0.3 * 394 Classic homocystinuria 0.3 BP 628 Diastrophic dwarfism 0.3 BP* 258 Congenital muscular dystrophy 1A 0.3 * 84 Fanconi anemia Mucopolysaccharidosis * 1300 Autosomal dominant popliteal pterygium Mirror polydactyly-vertebral segmentation-limbs defects 0.3 * 633 Laron 0.3 * 2299 Aortic arch interruption 0.3 BP* 277 Severe combined immuno due 0.3 BP* to adenosine deaminase 590 Congenital myasthenic 0.3 * 219 Autosomal recessive limb-girdle muscular dystrophy 2F 0.3 * Human prion disease 0.3 * Congenital non-bullous ichthyosiform erythroderma 0.3 * Jervell and Lange-Nielsen Anthracycline extravasation 0.3 * Isolated agammaglobulinemia MYH9-related disease 0.3 * Popliteal pterygium 0.3 * Chronic recurrent multifocal osteomyelitis Transient neonatal diabetes mellitus 0.3 BP* 845 Tay-Sachs disease 0.28 BP 811 Shwachman-Diamond Mucopolysaccharidosis * 702 Pelizaeus-Merzbacher disease 0.25 * 678 Papillon-Lefèvre 0.25 Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - January
12 Estimated prevalence (/100,000) X-linked dominant chondrodysplasia punctata 0.25 BP* Niemann-Pick disease A 0.25 BP* Dense deposit disease Pulmonary arterial hypertension associated with connective tissue disease 0.25 * 910 Xeroderma pigmentosum 0.23 BP* 324 Fabry disease 0.22 BP* 47 X-linked agammaglobulinemia Barth 0.22 * 436 Hypophosphatasia 0.21 BP* X-linked hypophosphatemia 0.21 * 534 Oculocerebrorenal of Lowe WAGR 0.2 BP 385 Neurodegeneration with brain iron accumulation 0.2 * 235 Dubowitz 0.2 BP* 191 Cockayne 0.2 BP* 3006 Pyridoxine-dependent epilepsy 0.2 BP* 2052 Fraser 0.2 BP* 277 Severe combined immuno due 0.2 * to adenosine deaminase 35 Propionic acidemia 0.2 * 722 Hypoplasminogenemia 0.2 * 353 Autosomal recessive limb-girdle muscular dystrophy 2C 0.2 * Sanfilippo B 0.2 * Hypohidrotic ectodermal dysplasia with immuno 0.2 BP* Letterer-Siwe disease 0.2 * Hyperphenylalaninemia Infant botulism 0.2 BP* Extraskeletal myxoid chondrosarcoma 0.2 * 596 X-linked centronuclear myopathy 0.2 * Pyridoxal phosphate-responsive seizures 0.2 * 1361 Carnosinemia 0.2 BP 2635 Metatropic dysplasia 0.2 BP* 808 Seckel 0.2 BP* 2614 Nail-patella 0.2 BP* 1456 Atypical coarctation of aorta 0.17 BP* 407 Glycine encephalopathy 0.17 * Junctional epidermolysis bullosa, Herlitz 0.17 BP Pelizaeus-Merzbacher disease, classic form 0.17 * 583 Mucopolysaccharidosis BP* 583 Mucopolysaccharidosis * 85 Congenital dyserythropoietic anemia 0.16 BP* 745 Severe hereditary thrombophilia due to congenital protein C 0.16 BP Estimated prevalence (/100,000) 335 Congenital fibrinogen 0.15 * 538 Lymphangioleiomyomatosis Nephrogenic diabetes insipidus 0.15 * Hermansky-Pudlak Pantothenate kinase-associated neurodegeneration 0.15 * 118 Beta-mannosidosis 0.14 BP* 763 Pycnodysostosis Wolfram Agammaglobulinemia 0.13 * Trichothiodystrophy 0.12 BP* 1308 C 0.11 * Autosomal dominant tubulointerstitial kidney disease 0.11 * 61 Alpha-mannosidosis 0.1 * 367 Glycogen storage disease due to glycogen branching enzyme 0.1 BP 512 Metachromatic leukodystrophy 0.1 * 906 Wiskott-Aldrich 0.1 * 205 Crigler-Najjar 0.1 BP* 773 Refsum disease 0.1 * 1452 Cleidocranial dysplasia Dyskeratosis congenita 0.1 * 204 Sporadic Creutzfeldt-Jakob disease 0.1 * 1959 Evans 0.1 * 326 Congenital factor V 0.1 * 507 Leishmaniasis 0.1 * 3329 Tibial aplasia-ectrodactyly 0.1 * 329 Congenital factor XI 0.1 * 2686 Cyclic neutropenia 0.1 * 298 Mitochondrial neurogastrointestinal encephalomyopathy 0.1 * 225 Maternally-inherited diabetes and deafness 0.1 * 209 Cutis laxa 0.1 BP* Colchicine poisoning 0.1 * 119 Autosomal recessive limb-girdle muscular dystrophy 2E 0.1 * 142 Anaplastic thyroid carcinoma 0.1 * Acquired hemophilia 0.1 * Congenital adrenal hyperplasia due to 17-alpha-hydroxylase 0.1 * Crouzon -acanthosis nigricans 0.1 BP Tibial hemimelia 0.1 BP* Juvenile myelomonocytic leukemia 0.1 * Paroxysmal non-kinesigenic dyskinesia Leukocyte adhesion I 0.1 * Inhalational anthrax 0.1 * Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - January
13 Estimated prevalence (/100,000) Autosomal dominant adult-onset proximal spinal muscular atrophy 0.1 * Mitochondrial membrane proteinassociated neurodegeneration Homozygous familial hypercholesterolemia Tumor necrosis factor receptor 1 associated periodic 0.1 * 2485 Melorheostosis 0.09 * Aceruloplasminemia Cushing due to macronodular 0.08 * adrenal hyperplasia Heritable pulmonary arterial hypertension 0.08 * 726 Alpers-Huttenlocher 0.07 * Severe congenital neutropenia Neonatal acute respiratory distress due to SP-B BP 337 Fibrodysplasia ossificans progressiva X-linked lymphoproliferative disease 0.05 * 2788 Osteoporosis-pseudoglioma 0.05 * 325 Congenital factor II 0.05 * 331 Congenital factor XIII 0.05 * Gaucher disease * Sialidosis 0.05 BP* Leber plus disease 0.04 * Primary pigmented nodular adrenocortical disease 0.04 * Naegeli-Franceschetti-Jadassohn * Congenital muscular dystrophy with integrin alpha * Pelizaeus-Merzbacher disease, connatal form 0.03 * Pelizaeus-Merzbacher disease, transitional form 0.03 * Anotia BP* 740 Hutchinson-Gilford progeria BP 227 Diphallia 0.02 BP 584 Mucopolysaccharidosis * 3169 Sirenomelia Gaucher disease * Klippel-Trénaunay * 740 Hutchinson-Gilford progeria Poliomyelitis in patients with immunodeficiencies deemed at risk 8.0E-4 * Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - January
14 List of diseases or groups of diseases by decreasing incidence Estimated incidence (/100,000) Dengue fever Tuberculosis Malaria Perineural cyst 50.0* 558 Marfan 25.0* 507 Leishmaniasis Acute lung injury 25.0* Lyme disease Rare epithelial tumor of stomach 18.6* B-cell non-hodgkin lymphoma 17.45* Uveitis 17.0* 813 Silver-Russell 15.5* 461 Recessive X-linked ichthyosis 15.0* 418 Congenital adrenal hyperplasia 13.35* Complication in hemodialysis 13.0* Carcinoma of gallbladder and extrahepatic biliary tract Non-Hodgkin lymphoma 11.6* 1546 Cryptococcosis 11.0* 435 Ito hypomelanosis 10.85* Lemierre 10.0* 2209 Maternal phenylketonuria 10.0* Malignant epithelial tumor of ovary 9.39* 3467 Hereditary xanthinuria 9.05* Squamous cell carcinoma of head and neck Renal cell carcinoma 8.35* 1941 Juvenile absence epilepsy 7.5* Carcinoma of esophagus Immune thrombocytopenic purpura 6.75* 448 Hemophilia 6.25* Multiple myeloma Adenocarcinoma of ovary 5.97* Interstitial lung disease 5.4* Glial tumor 5.35* 146 Differentiated thyroid carcinoma Primary cutaneous T-cell lymphoma 5.2* Squamous cell carcinoma of esophagus Rheumatic fever 5.0* 1306 Buschke-Ollendorff Astrocytoma 4.8* 3394 Soft tissue sarcoma 4.74* 1489 Whooping cough 4.37* Squamous cell carcinoma of the cervix uteri 4.28* Estimated incidence (/100,000) Cholangiocarcinoma Rare carcinoma of pancreas Juvenile polyposis 3.85* 2032 Idiopathic pulmonary fibrosis 3.81* Tumor of endocrine glands 3.75* 548 Leprosy Rare adenocarcinoma of the breast 3.55* Infant acute respiratory distress 3.5* Thyroid tumor Tumor of testis and paratestis 3.15* Thyroid carcinoma Hepatocellular carcinoma 3.09* Myeloproliferative neoplasm 3.07* 186 Primary biliary cholangitis Glioblastoma Mosaic trisomy 8 3.0* Typhoid 3.0* Complete androgen insensitivity 3.0* 154 Familial isolated dilated cardiomyopathy 2.91* 544 Diffuse large B-cell lymphoma 2.79* 513 Acute lymphoblastic leukemia 2.75* Pleomorphic salivary gland adenoma Familial thyroid dyshormonogenesis 2.67 Adenocarcinoma of the gallbladder and extrahepatic biliary tract 2.62* 70 Proximal spinal muscular atrophy 2.6* 877 Neuroendocrine tumor 2.53* 2038 Pulmonary arteriovenous malformation Acute myeloid leukemia Chronic recurrent multifocal osteomyelitis Hodgkin lymphoma 2.4* 391 Classic Hodgkin lymphoma 2.38* 707 Plague 2.2* 545 Follicular lymphoma 2.12* 352 Galactosemia 2.1* Classic galactosemia 2.1* Autoimmune hemolytic anemia 2.02* 1866 Focal, segmental or multifocal dystonia 2.0* Clear cell renal carcinoma 1.99* 1549 Cryptosporidiosis 1.96* 729 Polycythemia vera 1.9* Pleural mesothelioma 1.9* 102 Multiple system atrophy Testicular seminomatous germ cell tumor 1.71* 355 Gaucher disease 1.7* Acute transverse myelitis Shigellosis 1.59* 92 Juvenile idiopathic arthritis 1.5* Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - January
15 Estimated incidence (/100,000) 35 Propionic acidemia Familial melanoma 1.5* Hereditary diffuse gastric cancer 1.5* Myelodysplastic 1.5* 2103 Guillain-Barré Scleroderma Amyotrophic lateral sclerosis Isolated aniridia 1.31* 77 Aniridia 1.3* Classic Hodgkin lymphoma, nodular sclerosis * 635 Neuroblastoma Chronic myeloid leukemia 1.25* Proximal spinal muscular atrophy * Non-seminomatous germ cell tumor of testis 1.21* 2137 Autoimmune hepatitis 1.2 Epstein-Barr virus-associated gastric carcinoma Proximal spinal muscular atrophy 3 1.1* Malignant tumor of penis 1.075* Non-functioning pituitary adenoma Adenocarcinoma of the cervix uteri 1.01* 848 Beta-thalassemia Pfeiffer 1.0* 727 Microscopic polyangiitis 1.0* 3148 Malignant peripheral nerve sheath tumor Cystic echinococcosis 1.0* 2781 Osteopetrosis and related disorders 1.0* Gastrointestinal stromal tumor Primary myelofibrosis 1.0* Liposarcoma 1.0* Craniopharyngioma Hyperplastic polyposis Solitary rectal ulcer 1.0* T-cell non-hodgkin lymphoma 0.99* 549 Legionellosis 0.97* 2023 Undifferentiated pleomorphic sarcoma 0.9* 2467 Systemic mastocytosis 0.9* 900 Granulomatosis with polyangiitis 0.85* Mucinous adenocarcinoma of ovary 0.85* Waldenström macroglobulinemia 0.81* Endometrioid carcinoma of ovary 0.81* Bone sarcoma 0.8* 930 Idiopathic achalasia Primary cutaneous lymphoma 0.75* Pyoderma gangrenosum Squamous cell carcinoma of the anal canal 0.73* Malignant epithelial tumor of the salivary glands 0.73* Estimated incidence (/100,000) Progressive non-fluent aphasia 0.7* Adenocarcinoma of the esophagus Progressive supranuclear palsy Primary sclerosing cholangitis Japanese encephalitis 0.65* 340 Hemorrhagic fever-renal 0.65* Acute disseminated encephalomyelitis 0.6* Porphyria cutanea tarda 0.6* 780 Rhabdomyosarcoma 0.59* Mycosis fungoides and variants 0.59* 732 Polymyositis 0.585* Squamous cell carcinoma of penis 0.57* Adenocarcinoma of the small instestine 0.57* 221 Dermatomyositis 0.55* ACTH-dependent Cushing Myasthenia gravis 0.53 Chronic myeloproliferative disease, unclassifiable 0.53* Well-differentiated liposarcoma 0.51* Paget disease of the nipple 0.51* 191 Cockayne 0.5* 2584 Classic mycosis fungoides 0.5* 980 Absence of the pulmonary artery 0.5* Uveal melanoma 0.5* Unclassified acute myeloid leukemia 0.49* 3318 Essential thrombocythemia 0.48* Malignant non-epithelial tumor of ovary 0.43* Classic Hodgkin lymphoma, mixed cellularity * 820 Sneddon 0.4* T-cell large granular lymphocyte leukemia 0.4* Chronic primary adrenal insufficiency 0.4* 399 Huntington disease St. Louis encephalitis 0.38* Stevens-Johnson 0.36* 963 Acromegaly Relapsing polychondritis Oligodendroglial tumor 0.35* IgG4-related retroperitoneal fibrosis 0.35* Cerebral sinovenous thrombosis 0.35* Kaposi sarcoma 0.34* 533 Listeriosis Anisakiasis Proximal spinal muscular atrophy * Clear cell adenocarcinoma of the ovary 0.32* 1930 Herpes simplex encephalitis 0.3 Hereditary pheochromocytomaparaganglioma Desmoid tumor 0.3* Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - January
16 Estimated incidence (/100,000) MALT lymphoma 0.3* Infant botulism 0.3* Acute generalized exanthematous pustulosis Marginal zone lymphoma 0.3* Juvenile dermatomyositis Classic hairy cell leukemia 0.29* Myelodysplastic/myeloproliferative disease 0.29* Chronic myelomonocytic leukemia 0.29* Cutaneous neuroendocrine carcinoma Dedifferentiated liposarcoma 0.27* Proximal spinal muscular atrophy * Malignant melanoma of the mucosa 0.26* Adenocarcinoma of the anal canal 0.26* Insulinoma Idiopathic acute transverse myelitis 0.25* Classic neuroendocrine tumor of appendix Oligodendroglioma 0.25* Chondrosarcoma 0.24* 668 Osteosarcoma 0.23* 1332 Medullary thyroid carcinoma 0.22* Embryonal tumor of neuroepithelial tissue 0.22* Pancreatic neuroendocrine tumor 0.21* Adenocarcinoma of the liver and intrahepatic * biliary tract 301 Ependymal tumor 0.2* Cushing disease 0.2* Ependymoma 0.2* Primary hepatic neuroendocrine carcinoma Toxic epidermal necrolysis Q fever 0.19* Primary cutaneous CD30+ T-cell 541 lymphoproliferative disease 0.18* 183 Eosinophilic granulomatosis with polyangiitis 0.18* 543 Burkitt lymphoma 0.17* 3398 Thymic epithelial neoplasm 0.17* 142 Anaplastic thyroid carcinoma 0.17* Undifferentiated carcinoma of stomach 0.17* 517 Acute myelomonocytic leukemia 0.17* 284 Alveolar echinococcosis 0.16* Low grade ependymoma 0.16* 204 Sporadic Creutzfeldt-Jakob disease Meningioma 0.15* 553 Cushing 0.15* Human prion disease 0.15* Pediatric hepatocellular carcinoma 0.15* Non-immunoglobulin-mediated membranoproliferative glomerulonephritis 0.15* Refractory anemia with excess blasts 0.15* 654 Nephroblastoma 0.14* Estimated incidence (/100,000) Thymoma 0.14* Papillary renal cell carcinoma 0.14* 319 Ewing sarcoma 0.13* 514 Acute monoblastic leukemia 0.13* Malignant sex cord stromal tumor of ovary 0.13* Rare urogenital tumor 0.13* Squamous cell carcinoma of stomach 0.13* Extragonadal germ cell tumor 0.13* 913 Zollinger-Ellison Optic pathway glioma 0.12 Nodular lymphocyte predominant Hodgkin lymphoma Tularemia 0.12* Squamous cell carcinoma of the corpus uteri 0.12* Maligant granulosa cell tumor of the ovary 0.12* Malignant mixed Müllerian tumor of the ovary 0.12* 509 Leptospirosis 0.11* 616 Medulloblastoma 0.11* 520 Acute promyelocytic leukemia 0.11* Oligoastrocytic tumor 0.11* Acute myeloid leukemia with recurrent genetic anomaly 0.11* 112 Bartter 0.1* 2314 Autosomal dominant hyper-ige 0.1* 2382 Lennox-Gastaut 0.1* Cardiodysrhythmic potassium-sensitive periodic paralysis 0.1* Pseudomyxoma peritonei Caroli disease Myxoid/round cell liposarcoma 0.1* Miller-Fisher 0.1* Foodborne botulism 0.1* Wound botulism 0.1* Classic Hodgkin lymphoma, lymphocyte-rich * Anaplastic oligodendroglioma 0.09* Acquired idiopathic sideroblastic anemia 0.09* 3287 Takayasu arteritis 0.084* 375 Anti-glomerular basement membrane disease 0.08* Malignant germ cell tumor of ovary 0.08* Acquired hemophilia Brucellosis 0.07* Squamous cell carcinoma of rectum 0.07* Undifferentiated carcinoma of esophagus 0.07* Central nervous system primitive neuroectodermal tumor 0.07* Malignant teratoma of ovary 0.07* Congenital erythropoietic porphyria 0.065* Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - January
Standard Therapies - Cord Blood
A healthy future is in your hands 01 02 03 04 Standard Therapies - Cord Blood Clinical Trials with Blood - Forming Stem Cells Gene Therapy for Inherited Disorders Using Blood - Forming Stem Cells Clinical
More informationCHRONIC MYELOGENOUS LEUKEMIA
CHRONIC MYELOGENOUS LEUKEMIA SHUFFLING THE GENETIC DECK IN CML 9 9 (q+) 22 Ph (22q-) bcr bcr-abl abl Fusion protein causes cancer GLEEVEC AND BCR-ABL FUSION PROTEIN GENETIC MEDICINE A. Genetic diseases
More informationAll diseases on Foresight
All diseases on Foresight Disease 11-Beta-Hydroxylase- Deficient Congenital Adrenal Hyperplasia 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 3-Hydroxy-3-Methylglutaryl- CoA Lyase Deficiency
More informationPrevalence and incidence of rare diseases: Bibilographic data Diseases listed by decreasing prevalence, incidence or number of published cases
2 June 2017 Prevalence and incidence of rare diseases: Bibilographic data s listed by decreasing prevalence, incidence or number of published www.orpha.net www.orphadata.org Methodology Orphanet carries
More informationReproducibility with zebrafish models of human health and disease
Reproducibility with zebrafish models of human health and disease Monte Westerfield, University of Oregon, Eugene, USA Sponsored by the Office of the Director National Institutes of Health, the National
More informationFRAMBU. Resource Centre for Rare Disorders
FRAMBU Resource Centre for Rare Disorders Frambu Resource Centre for Rare Disorders is one of nine centres working with rare disorders in Norway. All nine centres are part of the Norwegian National Advisory
More informationList of Qualifying Conditions
List of Qualifying Conditions Cancer Conditions 1) Adrenal cancer 2) Bladder cancer 3) Bone cancer all forms 4) Brain cancer 5) Breast cancer 6) Cervical cancer 7) Colon cancer 8) Colorectal cancer 9)
More informationRare Disease Day Brussels, 1 March
Research activities in Europe: Trends and determinants Rare Disease Day Brussels, 1 March 2010 Research Death valley Development Collaboration clinicians / researchers Pharmaceutical Innovation / Performance
More informationBROADENING YOUR PATIENT S OPTIONS FOR GENETIC CARRIER SCREENING.
BROADENING YOUR PATIENT S OPTIONS FOR GENETIC CARRIER SCREENING. The Inheritest SM Carrier Screen provides relevant genetic screening for many inherited diseases found throughout the pan-ethnic US population.
More informationTreatments that require prior authorization by NHS
Treatments that require prior authorization by NHS If you want to apply for the cost reimbursement covering your treatment in Poland please check if you need to apply before your medical travel. Please
More informationCUMULATIVE ILLNESS RATING SCALE (CIRS)
CUMULATIVE ILLNESS RATING SCALE (CIRS) The CIRS used in this protocol is designed to provide an assessment of recurrent or ongoing chronic comorbid conditions, classified by 14 organ systems. Using the
More informationEURORDIS Member Organisations - Diseases - ERN Groupings Working Document
EURORDIS Member Organisations - Diseases - ERN Groupings Working Document Diseases ERN Group - Primary ERN Group - secondary Achondroplasia Fibrodysplasia ossificans progressiva Fibrous dysplasia of bone
More informationUltrasound Anomaly Details
Appendix 2. Association of Copy Number Variants With Specific Ultrasonographically Detected Fetal Anomalies Ultrasound Anomaly Details Abdominal wall Bladder exstrophy Body-stalk anomaly Cloacal exstrophy
More informationincidence rate x 100,000/year
Tier R=rare C=common Cancer Entity European crude and age adjusted incidence by cancer, years of diagnosis 2000 and 2007 Analisys based on 83 population-based cancer registries * applying the European
More informationGenetic Diseases. SCPA202: Basic Pathology
Genetic Diseases SCPA202: Basic Pathology Amornrat N. Jensen, Ph.D. Department of Pathobiology School of Science, Mahidol University amornrat.nar@mahidol.ac.th Genetic disease An illness caused by abnormalities
More informationReproductive Physiology Primordial Germ Cells Yolk Sac Sex Chromosomes Females Males Sex-Linked Traits
Reproductive Physiology Primordial Germ Cells - from Yolk Sac these migrate to fetus when it is 5 weeks old - these cells give rise to the gonads (ovaries for female, testes for male) first they form the
More informationHEALTH SERVICES POLICY & PROCEDURE MANUAL
PAGE 1 of 6 PURPOSE To establish basic understanding of indications and contraindications for transplantation of various organs. POLICY The N.C. Department of Correction, Division of Prisons, Health Services
More information12 Dynamic Interactions between Hematopoietic Stem and Progenitor Cells and the Bone Marrow: Current Biology of Stem Cell Homing and Mobilization
Table of Contents: PART I: Molecular and Cellular Basis of Hematology 1 Anatomy and Pathophysiology of the Gene 2 Genomic Approaches to Hematology 3 Regulation of Gene Expression, Transcription, Splicing,
More informationPremium Specialty: Pediatrics
Premium Specialty: Pediatrics Credentialed Specialties include: Adolescent Medicine, Pediatric Adolescent, and Pediatrics This document is designed to be used in conjunction with the UnitedHealth Premium
More informationThe Fetal Care Center at NewYork-Presbyterian/ Weill Cornell Medicine
The Fetal Care Center at NewYork-Presbyterian/ Weill Cornell Medicine Prompt and Personalized Care for Women with Complex Pregnancies A Team of Experts additional training in maternal and fetal complications
More informationPREDICAGEN LLC REPORT
The report below is a scientific interpretation of the DNA variants (referred as RS numbers) to the customer by a third party (for example 23andMe). The report should not be considered exclusive, because
More informationMethoden / Methods inc. ICCC-3 105
Methoden / Methods inc. ICCC-3 105 Internationale Klassifikation der Krebserkrankungen bei Kindern (ICCC-3) Zuordnung von ICD-O-3-Codes für Morphologie und Topographie zu diagnostischen Kategorien International
More informationS2 File. Clinical Classifications Software (CCS). The CCS is a
S2 File. Clinical Classifications Software (CCS). The CCS is a diagnosis categorization scheme based on the ICD-9-CM that aggregates all diagnosis codes into 262 mutually exclusive, clinically homogeneous
More informationCongenital Anomalies
Congenital Anomalies Down Syndrome 7580 7580 DOWN''S SYNDROME Q900 Q90.0 : Trisomy 21, meiotic nondisjunction 7580 7580 DOWN''S SYNDROME Q901 Q90.1 : Trisomy 21, mosaicism (mitotic nondisjunction) 7580
More informationBeyond Mendel s Laws of Inheritance
Beyond Mendel s Laws of Inheritance 2006-2007 Extending Mendelian genetics Mendel worked with a simple system peas are genetically simple most traits are controlled by a single gene each gene has only
More informationBone Marrow. Procedures Blood Film Aspirate, Cell Block Trephine Biopsy, Touch Imprint
Bone Marrow Protocol applies to acute leukemias, myelodysplastic syndromes, myeloproliferative disorders, chronic lymphoproliferative disorders, malignant lymphomas, plasma cell dyscrasias, histiocytic
More informationPREMATURITY/ESTIMATED GESTATIONAL AGE
PREMATURITY/ESTIMATED GESTATIONAL AGE 765.21 < 24 completed weeks of gestation P07.21 Extreme immaturity of newborn, gestational age less than 23 completed weeks P07.22 Extreme immaturity of newborn, gestational
More informationGeneral Approach to Genetic Testing
Protocol General Approach to Genetic Testing (20491) Medical Benefit Effective Date: 01/01/17 Next Review Date: 11/18 Preauthorization Yes Review Dates: 01/11, 01/12, 09/12, 05/13, 09/13, 09/14, 09/15,
More informationFETAL ICD-10 CODES QUICK REFERENCE GUIDE
FETAL ICD-10 CODES QUICK REFERENCE GUIDE Page CONTENTS 1 Cardiac Anomalies 3 Chromosome Abnormalities 4 Central Nervous System Anomalies 5 Extremity Anomalies 6 Face / Neck Anomalies 7 Gastrointestinal
More informationSouthwest Service Life Insurance Company
Southwest Service Life Insurance Company UNDERWRITING GUIDE 2/2012 95587v1Proof.indd 1 95587v1Proof.indd 2 95587v1Proof.indd 3 Acne A A A ADD A A A Addison s Disease D A D AIDS, ARC, HIV Infection D D
More information2010 Hematopoietic and Lymphoid ICD-O Codes - Alphabetical List THIS TABLE REPLACES ALL ICD-O-3 Codes
Acute basophilic leukemia 9870/3 Acute biphenotypic leukemia [OBS] 9805/3 Acute erythroid leukemia 9840/3 Acute megakaryoblastic leukemia 9910/3 Acute monoblastic and monocytic leukemia 9891/3 Acute myeloid
More information2012 Hematopoietic and Lymphoid ICD-O Codes - Numerical List THIS TABLE REPLACES ALL ICD-O-3 Codes
Malignant lymphoma, NOS 9590/3 Non-Hodgkin lymphoma, NOS 9591/3 B-cell lymphoma, unclassifiable, with features intermediate between diffuse large B-cell lymphoma and classical Hodgkin lymphoma 9596/3 Primary
More informationPROPOSED CHANGES TO EARLY ON ESTABLISHED CONDITIONS. Original material drawn from: MICHIGAN INTERAGENCY AGREEMENT Attachment 1
PROPOSED CHANGES TO EARLY ON ESTABLISHED CONDITIONS Original material drawn from: MICHIGAN INTERAGENCY AGREEMENT Attachment 1 Eligibility Definitions For Early Intervention Services in Michigan Under Part
More informationIndex. Note: Page numbers of article numbers are in boldface type.
Index Note: Page numbers of article numbers are in boldface type. A Abdomen, acute, as cancer emergency, 381 399 in cancer patients, etiologies unique to, 390 392 in perforation, 388 surgery of, portal
More informationCONTENTS. List of Entries...vii Introduction...xiii Advisory Board... xv Contributors... xvii Symbol Guide for Pedigree Charts...
CONTENTS List of Entries...vii Introduction....xiii Advisory Board... xv Contributors.... xvii Symbol Guide for Pedigree Charts...xxi Entries Volume 1: A-L........1 Volume 2: M-Z........767 Appendix Chromosome
More informationInternal Medicine End of Rotation
Internal Medicine End of Rotation EXAM TOPIC LIST CARDIOVASCULAR Angina pectoris Cardiac arrhythmias/conduction disorders Cardiomyopathy Congestive heart failure Coronary vascular disease Endocarditis
More informationNYEIS Version 4.3 (ICD) ICD - 10 Codes Available in NYEIS at time of version launch (9/23/2015)
D82.1 Di George's syndrome E63.9 Nutritional deficiency, unspecified E70.21 Tyrosinemia E70.29 Other disorders of tyrosine metabolism E70.30 Albinism, unspecified E70.5 Disorders of tryptophan metabolism
More informationContents 1 Normal Histology and Commonly Used Stains 2 Basic Pathologic Reactions
Contents 1 Normal Histology and Commonly Used Stains.... 1 1.1 Cells of the Nervous System... 1 1.1.1 Neurons... 1 1.1.2 Astrocytes.... 2 1.1.3 Oligodendrocytes... 5 1.1.4 Schwann Cells... 5 1.1.5 Ependyma....
More information155.2 Malignant neoplasm of liver not specified as primary or secondary. C22.9 Malignant neoplasm of liver, not specified as primary or secondary
ICD-9 TO ICD-10 Reference ICD-9 150.9 Malignant neoplasm of esophagus unspecified site C15.9 Malignant neoplasm of esophagus, unspecified 151.9 Malignant neoplasm of stomach unspecified site C16.9 Malignant
More informationAid to the MRCP PACES Volume 1 - Stations 1, 3 and 5,
Aid to the MRCP PACES Volume 1 - Stations 1, 3 and 5, Ryder ISBN-13: 9780470655092 Table of Contents Preface Preface to the third edition Preface to the second edition Preface to the first edition Introduction
More informationCLIC Sargent Eligibility Criteria
1 Eligibility Criteria DOCUMENT GOVERNANCE: Eligibility criteria Produced by J. Hawkins & Grants Team Sponsored by Dara de Burca Version Approval by Executive Team 10 th June 2014 Board of Trustees 3 rd
More informationGeneral Approach to Genetic Testing
Protocol General Approach to Genetic Testing (20491) (Formerly Genetic Testing for Inherited Disorders) Medical Benefit Effective Date: 01/01/14 Next Review Date: 09/14 Preauthorization Yes Review Dates:
More informationSupplemental Information
ARTICLE Supplemental Information SUPPLEMENTAL TABLE 6 Mosaic and Partial Trisomies Thirty-eight VLBW infants were identified with T13, of whom 2 had mosaic T13. T18 was reported for 128 infants, of whom
More informationGlobal Healthcare Panel Book 2017
Global Healthcare Panel Book 2017 www.philomathresearch.com About Philomath Research Philomath Market Research is a global healthcare fieldwork and data collection service provider for market research
More informationSTEPHEN P. NONN OFFICE OF THE CORONER MADISON COUNTY, ILLINOIS 157 MAIN STREET SUITE 354 EDWARDSVILLE, IL
MAIN OFFICE: (618) 692-7478 MORGUE: (618) 296-4525 FAX: (618) 692-6042 FAX: (618) 692-9304 STEPHEN P. NONN OFFICE OF THE CORONER MADISON COUNTY, ILLINOIS 157 MAIN STREET SUITE 354 EDWARDSVILLE, IL. 62025-1962
More informationRadiation Oncology Study Guide
Radiation Oncology Study Guide For the Initial CertificationQualifying (Computer-Based) Examination General and Radiation Oncology This examination is designed to assess your understanding of the entire
More informationThe primary medical content categories of the blueprint are shown below, with the percentage assigned to each for a typical exam:
Hematology Certification Examination Blueprint Purpose of the exam The exam is designed to evaluate the knowledge, diagnostic reasoning, and clinical judgment skills expected of the certified hematologist
More informationICD- 9 to ICD- 10 Transition PT SERVICES. October 1, 2015
ICD- 9 to ICD- 10 Transition PT SERVICES October 1, 2015 ICD- 9 ICD- 10 Description (ICD- 10) 1919 C71.9 Malignant neoplasm of brain, unspecified 1940 C74.90 Malignant neoplasm of unspecified part of unspecified
More informationIndex. Note: Page numbers of article titles are in boldface type.
Note: Page numbers of article titles are in boldface type. A Acalculous cholecystitis, postoperative, 190 191 Acute cardiac failure, hypoxic liver injury and, in critically ill and postoperative patients,
More informationSUPPLEMENTARY INFORMATION
Supplementary Table 1 trials currently open for patients with pheochromocytoma and/or paraganglima (from trials.gov) www.clinicaltrials.gov; Active PPGL trials Status Of Sunitinib In Patients With Recurrent
More informationThe Israeli population carrier screening program. Joël Zlotogora MD, PhD Hadassah medical school Hebrew University Jerusalem
The Israeli population carrier screening program Joël Zlotogora MD, PhD Hadassah medical school Hebrew University Jerusalem The Israeli population 2015 8,134,500 inhabitants Jews (75.1%) Ashkenazi, non
More informationIndex. Phys Med Rehabil Clin N Am 14 (2003) Note: Page numbers of article titles are in boldface type.
Phys Med Rehabil Clin N Am 14 (2003) 445 453 Index Note: Page numbers of article titles are in boldface type. A Acid maltase deficiencies, electrodiagnosis of, 420, 422 Acquired peripheral neuropathy,
More informationTable S5. Disease pairs that have a significant comorbidity and are connected in either KEGG or BiGG database
Table S5. Disease pairs that have a significant comorbidity and are connected in either KEGG or BiGG database Coincide nce Expected coincidence Maximum possible comorbidity Disease1 Disease2 Link(KEGG)
More informationInterQual Level of Care 2018 Index
InterQual Level of Care 2018 Index Rehabilitation Criteria Index Words by Subset The Index is an alphabetical listing of conditions and/or diagnoses designed to guide the user to the criteria subset where
More informationFUKUYAMA CONGENITAL MUSCULAR DYSTROPHY # Colorectal cancer, hereditary nonpolyposis # Meckel syndrome, type 1 #249000
Supplementary Table 1 A randomly selected subset of 100 record pairs crossreferenced by the curators. To be sure the 7,000 cross referenced records in fact were pairs of highly overlapping phenotypes,
More informationpanel tests assessing multiple genes at the same time for the diagnosis of one or more related disorders
NGS tests panel tests assessing multiple genes at the same time for the diagnosis of one or more related disorders UKGTN website lists 13 laboratories offering a total of 56 panel test UKGTN listed panel
More informationGASTROINTESTINAL IMAGING STUDY GUIDE
GASTROINTESTINAL IMAGING STUDY GUIDE Pharynx Diverticula Foreign bodies Trauma o Motility Disorders Esophagus Diverticula Trauma Esophagitis Barrett esophagus Rings, webs, and strictures Varices Benign
More informationAPPENDIX A. Comparability Ratios for the Major Causes of Death in North Carolina Vital Statistics, Volume 2
APPENDIX A Comparability Ratios for the Major Causes of Death in North Carolina Vital Statistics, Volume 2 The comparability ratio is an adjustment factor that is applied to the number of deaths coded
More information(f) "Birthing center" means any facility that is licensed by the Georgia Department of Community Health as a birthing center;
Ga. Comp. R. & Regs. r. 511-5-5-.02 Definitions Rule 511-5-5-.02. Definitions (a) "Abnormal test result" is a test result from blood testing or physiologic monitoring that is outside the screening limits
More informationRayos Prior Authorization Program Summary
Rayos Prior Authorization Program Summary FDA APPROVED INDICATIONS AND DOSAGE FDA-Approved Indications: 1 Agent Indication Dosage Rayos (prednisone delayedrelease tablet) as an anti-inflammatory or immunosuppressive
More informationMedical Conditions Resulting in High Probability of Developmental Delay and DSCC Screening Information
Jame5. L.Jma5, ~reuiry Medical Conditions Medical Conditions Resulting in High Probability of Developmental Delay and DSCC Screening Information I Not Listed later Children with medical conditions which
More informationContents. copyrighted material by PRO-ED, Inc. Chapter 1. Chapter 2. Chapter 3. Chapter 4. Chapter 5. Conditions in Athletic Injuries
Acknowledgments xiii Introduction to the First Edition xv Introduction to the Second Edition xvii Chapter 1 Conditions in Athletic Injuries Anterior Cruciate Ligament (ACL) Tear 2 Biceps Tendon Strain
More informationSchedule of Accreditation issued by United Kingdom Accreditation Service 2 Pine Trees, Chertsey Lane, Staines-upon-Thames, TW18 3HR, UK
Building 9 Contact: Dr Catherine Sturgeon BioQuarter Tel: +44 (0)131-2426885 Little France Road Fax: +44 (0)131-242-6882 E-Mail: c.sturgeon@ed.ac.uk Websites: http://edqas.org EH16 4UX Proficiency Testing
More informationPediatric Oncology. Vlad Radulescu, MD
Pediatric Oncology Vlad Radulescu, MD Objectives Review the epidemiology of childhood cancer Discuss the presenting signs and symptoms, general treatment principles and overall prognosis of the most common
More informationInterQual Level of Care 2018 Index
InterQual Level of Care 2018 Index Long-Term Acute Care (LTAC) Criteria The Index is an alphabetical listing of conditions and/or diagnoses designed to guide the user to the criteria subset where a specific
More informationEligibility Determination Notice to Coordinators
Eligibility Determination Notice to Coordinators Michigan Department of Education Early On Reference Bulletin No. 10 October 21, 2009 BACKGROUND Effective July 1, 2010 the eligibility criteria for children
More informationhe A-Z Reference Book of Syndromes and Inherited Disorders
he A-Z Reference Book of Syndromes and Inherited Disorders The A-Z Reference Book of Syndromes and Inherited Disorders Patricia Gilbert Visiting Senior Lecturer, Warwick University, UK SPRINGER-SCIENCE+BUSINESS
More informationAppendix B: List of Rare Diseases
Appendix B: List of Rare Diseases Rare caregivers were asked to indicate what rare disease, illness, or condition their care recipient had from a list of over 6,000 potential rare diseases. Below is a
More informationAtlas of Genetic Diagnosis and Counseling
Atlas of Genetic Diagnosis and Counseling Harold Chen Atlas of Genetic Diagnosis and Counseling Second Edition With 2427 Figures and 1 Table Harold Chen Perinatal and Clinical Genetics Department of Pediatrics
More informationNotifiable Medical Conditions
Notifiable Medical Conditions A Acoustic neuroma Addison s disease Agoraphobia AIDS Alcohol problems Alzheimer s disease Amyotrophic Lateral Sclerosis - see Motor Neurone Disease Amputations Aneurysm Angina
More informationESRD Dialysis Prevalence - One Year Statistics
Age Group IL Other Total 00-04 12 1 13 05-09 5 2 7 10-14 15 1 16 15-19 55 2 57 20-24 170 10 180 25-29 269 14 283 30-34 381 9 390 35-39 583 14 597 40-44 871 20 891 45-49 1,119 20 1,139 50-54 1,505 35 1,540
More informationTheses for the Final Exam of Pathology
Theses for the Final Exam of Pathology (Asterisks indicate the pool of theoretical questions for the semi-final practical exam) GENERAL PATHOLOGY I. POSTMORTEM SIGNS NECROSIS 1. Postmortem changes, causes
More informationSERIOUS ILLNESS COVER CONDITIONS COVERED
SERIOUS ILLNESS COVER CONDITIONS COVERED THE AVERAGE NUMBER OF ILLNESSES AND CONDITIONS MOST CRITICAL ILLNESS POLICIES COVER IS AROUND 45 But with our Primary Serious Illness Cover you re covered for over
More informationCLINICAL AND HUMAN TESTING
CLINICAL AND HUMAN TESTING CARRIER SCREENING FOR FAMILY PLANNING Let knowledge be your guide. Identify genetic conditions before or during a pregnancy to help predict the chances of having a child with
More information6 AAMD Classifications
6 AAMD Classifications This section contains the American Association on Mental Deficiency (1977 AAMD version) codes and decode values used in CARE. The codes are listed in numerical order. CARE System
More informationNeonatal Hypotonia Guideline Prepared by Dan Birnbaum MD August 27, 2012
Neonatal Hypotonia Guideline Prepared by Dan Birnbaum MD August 27, 2012 Hypotonia: reduced tension or resistance to range of motion Localization can be central (brain), peripheral (spinal cord, nerve,
More informationSchedule of Accreditation issued by United Kingdom Accreditation Service 2 Pine Trees, Chertsey Lane, Staines-upon-Thames, TW18 3HR, UK
2 Pine Trees, Chertsey Lane, Staines-upon-Thames, TW18 3HR, UK University Hospitals NHS Foundation Trust, Level 1, The Women s Centre John Radcliffe Hospital University Hospitals NHS Foundation Trust OX3
More informationBench to Bassinet Pediatric Cardiac Genomics Consortium: CHD GENES Form 105: Congenital Extracardiac Findings Version: B - 11/01/2010
Bench to Bassinet Pediatric Cardiac Genomics Consortium: CHD GENES Form 105: Congenital Extracardiac Findings Version: B - 11/01/2010 SECTION A: ADMINISTRATIVE INFORMATION A1. Study Identification Number:
More informationPGD: A Celebration of 20 years:
PGD: A Celebration of 20 years: What is Reality and What is Not? Roma June 30, 2010 Mark Hughes, M.D., Ph.D. Professor of Genetics, Internal Medicine, Pathology Director, Genesis Genetics Institute Director,
More informationUsing 3-Digit ICD-9-CM Codes with the Elixhauser Comorbidity Index
Congestive Heart Failure 398.91 Rheumatic heart failure (congestive) 398 Other rheumatic heart disease 402.01, 402.11, 402.91 402 Hypertensive heart disease 404.01, 404.03, 404.11, 404.13, 404.91, 404.93
More informationCombinations of morphology codes of haematological malignancies (HM) referring to the same tumour or to a potential transformation
Major subgroups according to the World Health Organisation (WHO) Classification Myeloproliferative neoplasms (MPN) Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB or
More informationINFORMATION KIT H PE. IS IN YOUR NEWBORN S BLOOD Help it last a lifetime with cord blood banking. Save $300 with Promo Code.
INFORMATION KIT H PE IS IN YOUR NEWBORN S BLOOD Help it last a lifetime with cord blood banking Save $300 with Promo Code Cord4Life CORD BLOOD STEM CELLS Umbilical cord blood is unique and is only available
More informationQUESTION. Personal Behavior History. Donor Genetic History. Donor Medical History. Family Medical History PERSONAL BEHAVIOR HISTORY. Never N/A.
Donor 4576 Medical Profile S Personal Behavior History Donor Genetic History Donor Medical History Family Medical History PERSONAL BEHAVIOR HISTORY Current alcohol use: If yes, oz./week and type of alcohol:
More informationSchedule of Accreditation issued by United Kingdom Accreditation Service 2 Pine Trees, Chertsey Lane, Staines-upon-Thames, TW18 3HR, UK
2 Pine Trees, Chertsey Lane, Staines-upon-Thames, TW18 3HR, UK Accredited to ISO 15189:2012 Laboratory Genetics Level 2B, Laboratory Medicine Queen Elizabeth University Hospital Govan Road Glasgow G51
More informationLumbosacral plexus lesion Lumbosacral plexus disorders G54.1 Neuralgic amyotrophy Neuralgic amyotrophy G
ICD-9-CM and ICD-10-CM NEUROMUSCULAR DIAGNOSIS CODES Focal Neuropathy ICD-9-CM ICD-10-CM Mononeuropathy G56.00 Carpal tunnel syndrome 354.00 Other median nerve lesion 354.10 Lesion of ulnar nerve 354.20
More informationCovered Critical Illness Conditions Appendix
Covered Critical Illness Conditions Appendix Effective Date: February 1, 2010 This Appendix contains definitions for those Conditions that are covered under the Manulife Financial Group Critical Illness
More informationInterventions for non-metastatic squamous cell carcinoma of the skin: a systematic review and pooled analysis of observational studies
Web appendix 2: SEARCH STRATEGIES Interventions for non-metastatic squamous cell carcinoma of the skin: a systematic review and pooled analysis of observational studies MEDLINE 1. exp epidemiologic studies/
More informationHEMATOLOGY Maintenance of Certification (MOC) Examination Blueprint
HEMATOLOGY Maintenance of Certification (MOC) Examination Blueprint ABIM invites diplomates to help develop the Hematology MOC exam blueprint Based on feedback from physicians that MOC assessments should
More informationStrand Neuromuscular Disorders Test: Genes & Test Selection
1 Strand Neuromuscular Disorders Test: Genes & Test Selection 2 Can the Strand Neuromuscular Disorders Test Be Offered for Prenatal Diagnosis? 3 Strand Neuromuscular Disorders Test: Genes & Test Selection
More informationSemester I 2013/2014. Clinical Medicine & Pathology 316
Semester I 2013/2014 Clinical Medicine & Pathology 316 Course Content Outline/Lecture Details & Timetable: 1. Introduction to Pathology Part I: Sunday* 01/09/13 (MD)*** a. Course introduction. b. Pathology
More informationCoagulation factor VII deficiency. Hemophilia A (German Shepherd Dog, type 1) Pyruvate kinase deficiency (Labrador Retriever type)
Blood and Clotting Coagulation factor VII deficiency Elliptocytosis Hemophilia A (German Shepherd Dog, type 2) Pyruvate kinase deficiency (Labrador Retriever type) Thrombopathia (American Eskimo Dog type)
More informationERA-EDTA ERA-EDTA Primary Renal Diagnosis (PRD) Term ERA-EDTA PRD classification SNOMED CT PRD Code 1/1/2015
1003 Adult nephrotic syndrome - no histology Immunological Glomerulopathy 52254009 1019 Nephrotic syndrome of childhood - steroid sensitive - no histology Immunological Glomerulopathy 445119005 1026 Congenital
More informationISUOG Basic Training. Assessing the Neck & Chest Gihad Chalouhi, Lebanon
ISUOG Basic Training Assessing the Neck & Chest Gihad Chalouhi, Lebanon Learning objectives 9 & 10 At the end of the lecture you will be able to: recognise the differences between the normal & most common
More informationGenomics and Genetics in Healthcare. By Mary Knutson, RN, MSN
Genomics and Genetics in Healthcare By Mary Knutson, RN, MSN Clinical Objectives Understand the importance of genomics to provide effective nursing care Integrate genetic knowledge and skills into nursing
More information2014 /2018 ERA-EDTA PRD Code ERA-EDTA PRD code 1996 ERA-EDTA. SNOMED CT concept identifier Convert ERA-EDTA Primary Renal Diagnosis (PRD) Term
Convert Primary Renal Diagnosis (PRD) Term ERA_EDTA diagnosis 3380 901.1.C 90 Acute kidney injury Acute Renal Failure 14669001 Miscellaneous renal disorders 3398 901.2.C 90 Acute kidney injury due to hypovolaemia
More informationAnnual High Claims Survey. Year Ending 31 December 2016
Annual High Claims Survey Year Ending 31 December 2016 Released July 2017 Summary The Private Healthcare Australia Annual High Claims Survey Report analyses the nature and magnitude of high claims met
More informationRecognizable Patterns of Malformation Chromosomal Abnormality Syndromes Down Syndrome Trisomy 18 Syndrome Trisomy 13 Syndrome Trisomy 8 Syndrome
Recognizable Patterns of Malformation Chromosomal Abnormality Syndromes Down Syndrome Trisomy 18 Syndrome Trisomy 13 Syndrome Trisomy 8 Syndrome Trisomy 9 Mosaic Syndrome Triploidy Syndrome and Diploid/Triploid
More informationLegal aspects in accidents and neglect.
Al-Al Bayt University Princess Salma Faculty of Nursing Adult Health nursing Course Title :Child Health Nursing Course Number :1001341 Credit Hours :3 Pre requisite :1001222 Placement : Instructor:,, Course
More information